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10 resultater
Respiratory insufficiency in adult-onset acid maltase deficiency.
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Although the adult form of acid maltase deficiency is characterized by weakness of the limb girdle muscles, weakness of the respiratory muscles out of proportion to that of the limb muscles may make the diagnosis less obvious. We present four patients aged 35 to 57 with respiratory muscle weakness
A 60-year-old woman with weakness, fatigue, and acute respiratory failure: case report and discussion of the differential diagnosis.
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A 60-year-old woman with chronic progressive fatigue, diurnal somnolence, proximal muscle weakness, and dyspnea developed acute respiratory failure when given supplemental oxygen. Hypoventilation secondary to neuromuscular dysfunction was suspected by the critical care specialist. Neurologic
A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers.
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We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and
[Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease].
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BACKGROUND
Adult-onset acid maltase deficiency myopathy is a rare lysosomal storage disease with an autosomal recessive pattern of inheritance. The disease can be manifested with respiratory insufficiency and fatigue.
METHODS
A case of a 45-year-old male patient is presented, and difficulty in
Comparative evaluation of two dosages of tinidazole in the treatment of giardiasis.
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Forty-five patients with parasitologically confirmed symtomatic giardiasis were treated with tinidazole. A course of 150 mg twice daily for 7 days cured 14 of 19 patients (74%), and a single dose of 2,000 mg cured 24 of 26 (92%). After the single dose, mild side effects were common including
Decompensated cor pulmonaleas the first manifestation of adult-onset myopathy.
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A 46-year-old white female was admitted for decompensated cor pulmonale (CP). It had not interfered with her daily activities and she had not experienced shortness of breath, fatigue or muscle weakness prior to the onset of right heart failure. A thorough investigation revealed severe generalized
Metabolic myopathy presenting with polyarteritis nodosa: a case report.
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BACKGROUND
To the best of our knowledge, we describe for the first time a patient in whom an unusual metabolic myopathy was identified after failure to respond to curative therapy for a systemic vasculitis, polyarteritis nodosa. We hope this report will heighten awareness of common metabolic
Pathological characteristics of glycogen storage disease III in skeletal muscle.
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We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen.
The in vivo infusion of hydrogen peroxide induces oxidative stress and differentially affects the activities of small intestinal carbohydrate digestive enzymes in the neonatal pig.
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Chronic fatigue syndrome (CFS) is characterized by persistent and relapsing fatigue that involves oxidative stress in its pathogenesis. We tested the hypothesis that a decrease in key carbohydrate-digesting enzyme activity in the gut is one of the major biological mechanisms of developing CFS in
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
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Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of the kind and severity of symptoms and the natural
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